Brugada syndrome in a family with a high mortality rate: a case report

Abstract

IntroductionBrugada syndrome is a hereditary arrhythmia characterized by a specific electrocardiographic pattern and an increased risk of sudden cardiac death, with an apparent absence of structural abnormalities or ischemic heart disease. To date, mutations in the sodium channel, voltage-gated, type V, alpha subunit gene and glycerol-3-phosphate dehydrogenase 1-like gene are estimated to account for approximately 28% of Brugada syndrome probands.Case presentationWe report the case of a 32-year-old mixed-race Brazilian man who is sodium channel, voltage-gated, type V, alpha subunit gene and glycerol-3-phosphate dehydrogenase 1-like gene mutation-negative with a type 1 Brugada electrocardiographic pattern and a history of high family mortality, including five sudden deaths among relatives of whom four were first-degree relatives.ConclusionTo the best of our knowledge, this is the first case of a patient who has Brugada syndrome and a history of sudden death in four first-degree family members. This case report reinforces the evidence that genetic studies are of limited use while determining risk but remain helpful for diagnosis, and that diagnosis via electrocardiography is of great importance in preventing adverse events and stratifying risk. Although there are several technologically advanced diagnostic tools, they might not be accessible in small towns and hospitals; however, a basic diagnostic tool like electrocardiography is easily accessible.

Case Report: Comprehensive evaluation of ECG phenotypes and genotypes in a family with Brugada syndrome carrying SCN5A-R376H

“…However, the brother's ECG indicated a conduction delay, which could contribute to BrS in terms of the depolarization hypothesis, and special observation would be considered for him. Family members who carry BrS-associated variants but remain asymptomatic and have normal ECGs indicate that genetic studies are of limited usefulness for determining risk (28). In contrast, even though family gene variants are not determined, there is no reason to exclude BrS if the patients exhibit the Brugada ECG pattern.…”

Prevalência e Características Relacionadas de Pacientes com Eletrocardiograma com Padrão de Brugada em Santa Catarina, Brasil

“…[25][26][27] Em contrapartida, não temos conhecimento de estudos que demonstrem a prevalência do padrão eletrocardiográfico de Brugada na população brasileira; apenas relatos de casos e um estudo de prevalência familiar de SB. [28][29][30][31] A prevalência encontrada neste estudo é inferior aos dados relatados na literatura e pode estar relacionada à baixa prevalência de padrão eletrocardiográfico de Brugada na população brasileira. Por ser a SB um quadro genético, é possível que as variações genéticas encontradas na população estudada possam ter influenciado a prevalência desse padrão eletrocardiográfico.…”

Brugada syndrome: a fatal disease with complex genetic etiologies – still a long way to go

“…Another study [ 36 ] showed that the GPD1-L mutation itself causes a loss function of enzymatic activity, and decreased GPD1-L activity would have then increased the substrate G3P, and fed the PKC-mediated phosphorylation of SCN5A at S1503 where such phosphorylation was known to decrease I Na . A study showed that GPD1-L gene accounted for 11%–12% BrS probands [ 37 ], but other studies showed no identification on any missense GPD1-L gene mutation, suggesting that GPD1-L may not be a major cause of BrS [ 38 , 39 ]. Further studies are needed to obtain the accurate prevalence of GPD1-L variants in BrS.…”